Canonical Allele Identifier: CA393201776

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66781104-G-T
• MyVariant Identifiers: chr15:g.67073442G>T (hg19) ; chr15:g.66781104G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781104G>T , CM000677.2:g.66781104G>T	GRCh38
NC_000015.9:g.67073442G>T , CM000677.1:g.67073442G>T	GRCh37
NC_000015.8:g.64860496G>T	NCBI36
NG_012244.1:g.83769G>T
NG_012244.2:g.83769G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1060G>T MANE Select	ENSP00000288840.5:p.Val354Phe
ENST00000288840.9:c.1060G>T	ENSP00000288840.5:p.Val354Phe
ENST00000557916.5:c.1192G>T	ENSP00000452955.1:n.1192G>T
ENST00000559931.5:c.364G>T	ENSP00000453446.1:n.364G>T
NM_005585.4:c.1060G>T	NP_005576.3:p.Val354Phe
NR_027654.1:n.2115G>T
XM_011521561.1:c.277G>T	XP_011519863.1:p.Val93Phe
XR_931825.1:n.2459G>T
XM_011521561.2:c.277G>T	XP_011519863.1:p.Val93Phe
NM_005585.5:c.1060G>T MANE Select	NP_005576.3:p.Val354Phe
NR_027654.2:n.2215G>T